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Category: genetics – Page 56

Major autism study uncovers biologically distinct subtypes, paving the way for precision diagnosis and care

Researchers at Princeton University and the Simons Foundation have identified four clinically and biologically distinct subtypes of autism, marking a transformative step in understanding the condition’s genetic underpinnings and potential for personalized care.

Analyzing data from over 5,000 children in SPARK, an cohort study, the researchers used a computational model to group individuals based on their combinations of traits.

The team used a “person-centered” approach that considered a broad range of over 230 traits in each individual, from social interactions to to developmental milestones, rather than searching for to single traits.

Genome editing enables mice to produce their own weight-loss drug for months

Weight-loss drugs have surged in popularity, promising rapid results with regular injections. Now, researchers from Japan report a way for the body to make its own weight-loss drugs, doing away with injections in favor of a one-time treatment.

In the study, “Targeted In Vivo Gene Integration of a Secretion-Enabled GLP-1 receptor agonist Reverses Diet-induced Non-genetic Obesity and Pre-diabetes,” published in Communications Medicine, researchers from the University of Osaka reveal a modified genome editing approach to tackle noncommunicable, multifaceted diseases.

The approach introduced a new protein-coding gene, rather than attempting to correct a mutation in an existing gene and could be the key to lifelong effective weight management.

Neanderthal DNA could be the cause of some modern brain malformations

If you regularly experience headaches, dizziness, balance problems and blurred vision, our Neanderthal cousins could be to blame.

These are common symptoms of Chiari malformations, structural defects in which the lower part of the brain extends into the spinal cord. People with this condition have skulls shaped like those of our ancient relatives, leading to a hypothesis (known as the Archaic Homo Introgression Hypothesis) that it may be a genetic legacy from interbreeding between and Neanderthals.

To investigate this, Kimberly Plomp of the University of the Philippines Diliman and colleagues zeroed in on Chiari 1, the mildest form of the condition, which affects around 1 in 100 people.

Late eating is associated with impaired glucose metabolism

Our metabolic processes differ depending on the time of day and many of them are more active in the morning than in the evening. Although studies show that eating late in the day is associated with an increased risk of obesity and cardiovascular diseases, little is known about how the time we eat affects glucose metabolism and to what extent this is genetically defined.

Prof. Olga Ramich from the German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE) and her team recently investigated this using data from a twin cohort from 2009-10. Their article was published in the journal eBioMedicine.

The is a hierarchically structured 24-hour time control system in the body that regulates behavior and metabolism via a central clock in the brain and peripheral clocks in organs such as the liver or pancreas. As a result, our differ depending on the time when we eat, which leads to diurnal fluctuations in glucose metabolism and the release of hormones after a meal.

China regrows mouse ear using genetic switch, eyes human organ repair

Wang Wei and Deng Ziqing, the co-corresponding authors, determined that a shortage of this retinoic acid prevented mice from regenerating their ear pinna (the outer ear).

Researchers have demonstrated that a genetic switch for organ regeneration exists, after restoring damaged outer ears in mice.

This has ignited hope that similar switches might exist for other organs, even in humans.

The study conducted by the National Institute of Biological Sciences, Beijing, zeroes in on a crucial molecule: retinoic acid, a derivative of vitamin A.

Healthy lifestyle linked to lower diverticulitis risk, irrespective of genetic susceptibility

Maintaining a healthy lifestyle—specifically, a diet rich in fiber but light on red/processed meat, regular exercise, not smoking, and sticking to a normal weight—is linked to a significantly lower risk of diverticulitis, finds a large long-term study, published online in the journal Gut.

What’s more, these five components seem to offset the effects of inherited genes, the findings indicate.

Diverticulitis occurs when “pouches” develop along the gut and become inflamed or infected in the wall of the large intestine (colon), explain the researchers. It’s a common cause of hospital admissions and a major reason for emergency colon surgery, they add.

Chinese scientists find genetics shapes brain’s balance linked to mental ability

There is extensive evidence that brain criticality – the balance between neural excitation and inhibition – enhances its information processing capabilities.

But despite the significance of brain criticality and its potential influence on neurological and psychiatric disorders, the genetic basis of this state had been “largely unexplored”, according to researchers from the Chinese Academy of Sciences’ biophysics and automation institutes. “We demonstrate that genetic factors significantly influence brain criticality across various scales, from specific brain regions to large-scale networks,” the team said in their paper published in the peer-reviewed journal Proceedings of the National Academy of Sciences last month.

They also established a link between criticality and cognitive functions, suggesting a shared genetic foundation.

“These findings position brain criticality as a biological phenotype, opening broad avenues for exploring its implications in brain function and potential dysfunctions,” the team wrote.

Brain criticality is characterised by neuronal avalanches, or cascading bursts of neuron activity in brain networks.

“At the critical state, the brain exhibits scale-free dynamics, with avalanches observed across various scales ranging from local networks of individual neurons to the global network of interacting brain areas,” the paper said.

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